Canonical Allele Identifier: CA2740096471

Gene: DES

Linked Data

• ClinVar Variation Id: 2944715
• ClinVar RCV Id: RCV003808417

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418581dup , CM000664.2:g.219418581dup	GRCh38
NC_000002.11:g.220283303dup , CM000664.1:g.220283303dup	GRCh37
NC_000002.10:g.219991547dup	NCBI36
NG_008043.1:g.5205dup , LRG_380:g.5205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.119dup MANE Select	ENSP00000363071.3:p.Gly41ArgfsTer3
ENST00000373960.3:c.119dup	ENSP00000363071.3:p.Gly41ArgfsTer3
NM_001927.3:c.119dup , LRG_380t1:c.119dup	NP_001918.3:p.Gly41ArgfsTer3
NM_001927.4:c.119dup MANE Select	NP_001918.3:p.Gly41ArgfsTer3
NM_001382708.1:c.119dup	NP_001369637.1:p.Gly41ArgfsTer3
NM_001382709.1:c.119dup	NP_001369638.1:p.Gly41ArgfsTer3
NM_001382710.1:c.119dup	NP_001369639.1:p.Gly41ArgfsTer3
NM_001382711.1:c.119dup	NP_001369640.1:p.Gly41ArgfsTer3
NM_001382712.1:c.119dup	NP_001369641.1:p.Gly41ArgfsTer3
NM_001382713.1:c.119dup	NP_001369642.1:p.Gly41ArgfsTer3